Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258664 | SCV000320954 | pathogenic | Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |